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PTCHD1

Basics

Aliases:
This biomarker is also known as:
  • patched domain-containing protein 1,
  • FLJ30296,
  • patched domain containing 1,

Description…

PTCHD1 is a membrane protein with a patched domain that is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in the PTCHD1 gene, which is located on the X chromosome, are associated with intellectual disability and autism spectrum disorder.

Attributes

QA State: Curated
Type: Protein
Short Name:
HGNC Name: PTCHD1

Datasets

There are no datasets associated with this biomarker.

Organs

The following organs have data associated with this biomarker…

Breast

Attributes

Phase: Two
QA State: Under Review

Overview

No additional breast data available.

Performance Comment

PTCHD1 was one of numerous potential early detection biomarkers specific to triple-negative breast cancer in multiple pathways identified.

Studies

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

Biomuta

Mutation Statistics

Gene Name: PTCHD1
UniProt Accession #: Q96NR3
Mutated Sites Count: 139
Associated Pubmed ID Count 0
CancerDO Count 21
Affected Protein Function Sites Count: 4

View in BioMuta